IthaID: 668
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 92 CGG>CAG [Arg>Gln] | HGVS Name: | HBA1:c.278G>A |
| Hb Name: | Hb J-Cape Town | Protein Info: | α1 92(FG4) Arg>Gln |
Context nucleotide sequence:
AGCGACCTGCACGCGCACAAGCTTC [G/A] GGTGGACCCGGTCAACTTCAAGGTG (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLQVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
Also known as:
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | α-chain variant |
| Allele Phenotype: | N/A |
| Stability: | N/A |
| Oxygen Affinity: | Increased Oxygen Affinity |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 37973 |
| Size: | 1 bp |
| Located at: | α1 |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | Japanese, South African, Italian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Botha MC, Beale D, Isaacs WA, Lehmann H, Hemoglobin J Cape Town-alpha-2 92 arginine replaced by glutamine beta-2., Nature , 212(5064), 792-5, 1966
- Ogawa S, Shulman RG, Kynoch PA, Lehmann H, High resolution nuclear magnetic resonance studies of haemoglobin J Capetown., Nature , 225(5237), 1042-3, 1970
- Charache S, Jenkins T, Oxygen equilibrium of hemoglobin J Cape Town., J. Clin. Invest. , 50(7), 1554-5, 1971
- Nagel RL, Gibson QH, Jenkins T, Ligand binding in hemoglobin J Capetown., J. Mol. Biol. , 58(3), 643-50, 1971
- Botha MC, Stathopoulou R, Lehmann H, Rees JS, Plowman D, A Hb J Cape Town homozygote--association of Hb J Cape Town and alpha-thalassaemia., FEBS Lett. , 96(2), 331-4, 1978
- Molchanova TP, Pobedimskaya DD, Huisman TH, The differences in quantities of alpha 2- and alpha 1-globin gene variants in heterozygotes., Br. J. Haematol. , 88(2), 300-6, 1994
- Pagano L, Flagiello A, Tedesco R, Ammirabile M, Pollio F, Prossomariti L, Giambona A, Passarello C, Pucci P, Hb J-Cape Town [alpha92(FG4)Arg-->Gln (alpha1), CGG-->CAG] in Southern Italy found in a patient with erythrocytosis., Hemoglobin , 31(2), 113-20, 2007
Created on 2010-06-16 16:13:16,
Last reviewed on 2021-04-07 12:09:10 (Show full history)
Disclaimer: The information on this website is provided as an information resource only
and must not to be used as a substitute for professional diagnosis and treatment.
The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment,
diagnosis or any other information, services or products that an individual obtains through this website.